Results 61 to 70 of about 1,633 (195)

Genetics and Genetic Testing in Congenital Heart Disease [PDF]

, 2015
Congenital heart defects (CHDs) are structural abnormalities of the heart and great vessels that are present from birth. The presence or absence of extra-cardiac anomalies has historically been used to identify patients with possible monogenic ...
Cowan, Jason R., Ware, Stephanie M.
core   +1 more source

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases

American Journal of Medical Genetics Part A, Volume 194, Issue 4, April 2024.
Abstract Cat Eye Syndrome (CES) is a rare genetic disease caused by the presence of a small supernumerary marker chromosome derived from chromosome 22, which results in a partial tetrasomy of 22p‐22q11.21. CES is classically defined by association of iris coloboma, anal atresia, and preauricular tags or pits, with high clinical and genetic ...
Guillaume Jedraszak, Florence Jobic, Aline Receveur, Frédéric Bilan, Brigitte Gilbert‐Dussardier, Busa Tiffany, Chantal Missirian, Marjolaine Willems, Sylvie Odent, Josette Lucas, Christele Dubourg, Elise Schaefer, Sophie Scheidecker, James Lespinasse, Alice Goldenberg, Anne‐Marie Guerrot, Géraldine Joly‐Helas, Pascal Chambon, Cédric Le Caignec, Albert David, Charles Coutton, Véronique Satre, Gaëlle Vieville, Florence Amblard, Radu Harbuz, Damien Sanlaville, Marianne Till, Catherine Vincent‐Delorme, Cindy Colson, Joris Andrieux, Sophie Naudion, Jérome Toutain, Caroline Rooryck, Bénédicte de Fréminville, Fabienne Prieur, Valérie Cormier Daire, Daniel Amram, Pascale Kleinfinger, Gisela Raabe‐Meyer, Carolina Courage, Johannes Lemke, Eunice G. Stefanou, Thomaidis Loretta, Manolakos Emmanouil, Sophia Kitsiou Tzeli, Henryka Sodowska, Jasen Anderson, Adayapalam Nandini, Henri Copin, Loïc Garçon, Thomas Liehr, Gilles Morin   +51 more
wiley   +1 more source

The Clinical Features and Management of Duane's Retraction Syndrome Type 2 in Pediatric Patients

Beyoglu Eye Journal, 2017
INTRODUCTION[|]The aim of this study was to describe the demographic details, features, and clinical management of pediatric patients with Duane retraction syndrome (DRS) type 2.[¤]METHODS[|]A total of 632 charts from patients who were diagnosed with DRS
Asli İnal, Osman Bulut Ocak, Ebru Demet Aygit, Selcen Celik, Berkay Inal, Ahmet Demirok, Birsen Gokyigit   +6 more
doaj   +1 more source

Duane's retraction syndrome in a cohort of South African children a 20 year clinic based review [PDF]

, 2020
OBJECTIVES: To describe the clinical features of Duane’s retraction syndrome in a cohort of South African children and analyse subtypes for ethnic differences. METHODS: Retrospective case series of 120 patients seen in the period from 1997 to 2017 at the
Steyn, Anna
core   +1 more source

MR imaging of Duane retraction syndrome [PDF]

Pediatric Radiology, 2008
An 11-year-old girl presented with a history of inability to abduct the left eye since birth (Fig. 1, below). Highresolution MR imaging through the brainstem showed the right abducens nerve entering Dorello’s canal (Fig. 2, arrow) and absence of the left abducens, confirming the diagnosis of Duane retraction syndrome (DRS). DRS, as originally described
Menachem M, Gold, Jacques, Romano
openaire   +2 more sources

Bilateral inverse Duane′s retraction syndrome-A case report

Indian Journal of Ophthalmology, 1991
Duane′s retraction syndrome is a well known congenital musculo-facial anomaly. Various explanations have been given for the aetiology of this syndrome.
Chatterjee Pranab, Bhunia Jagneswar, Bhattacharyya Indranil   +2 more
doaj  

Congenital Multiple Ocular Motor Nerve Palsy Complicated by Splitting of the Lateral Rectus Muscle [PDF]

, 2019
We report a case of congenital multiple ocular motor nerve palsy combined with splitting of the lateral rectus muscle (LR). A 59-year-old Japanese female was investigated for worsening esotropia after corrective surgery.
Hamasaki, Ichiro, Kishimoto, Fumiko, Kono, Reika, Morizane, Yuki, Ohtsuki, Hiroshi, Shibata, Kiyo, Shimizu, Takehiro, Shiraga, Fumio   +7 more
core   +1 more source

Unilateral medial rectus muscle recession combined lateral rectus muscle marginal myotomy for the treatment of Duane's retraction syndrome: A promising surgical procedure [PDF]

, 2020
Background: Duane's retraction syndrome is a congenital eye movement anomaly with narrowing of the palpebral fissure and globe retraction on attempted adduction. There are several surgical approaches to treat the narrowing of the palpebral fissure.
Amirkhani, Arman, Pourazizi, Mohsen, Zandi, Alireza   +2 more
core   +1 more source

Treatment modalities in Duane’s Retraction Syndrome

International Journal of Ophthalmology, 2020
To study the different treatment modalities needed in cases of Duane's Retraction Syndrome (DRS).This prospective study undergone in more than four years, in Alexandria, included 238 patients of DRS, including type I, 162 patients (68%), type II 12 patients (5%) and type III 64 patients (27%).
Karim A Gaballah, Dalal Shawky
openaire   +3 more sources

Profile of ocular and systemic characteristics in Möbius sequence patients from Brazil and Italy [PDF]

, 2012
PURPOSE: To compare the profiles and clinical findings of a series of patients with Möbius sequence from Brazil with a series from Italy. METHODS: This is a multicenter study, which includes 46 Möbius sequence patients from Brazil and 20 from Italy ...
Arturo Carta, Bruna Vieira Ventura, Carlos Teixeira Brandt, Diana Danda, Liana Oliveira Ventura, Marilyn Tiller Miller   +5 more
core   +2 more sources